Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 6, 2023; 11(10): 2254-2259
Published online Apr 6, 2023. doi: 10.12998/wjcc.v11.i10.2254
Neonatal hyperinsulinism with an ABCC8 mutation: A case report
Meng-Tong Liu, Hui-Xia Yang
Meng-Tong Liu, Hui-Xia Yang, Department of Gynecology and Obstetrics, Peking University First Hospital, Beijing 100034, China
Author contributions: Liu MT contributed to manuscript writing and editing, data collection, and data analysis; Yang HX contributed to conceptualization and supervision; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patients for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hui-Xia Yang, PhD, Professor, Department of Gynecology and Obstetrics, Peking University First Hospital, No. 1 Xi’anmen Street, Beijing 100034, China. yanghuixia@bjmu.edu.cn
Received: October 13, 2022
Peer-review started: October 13, 2022
First decision: December 13, 2022
Revised: January 16, 2023
Accepted: February 15, 2023
Article in press: February 15, 2023
Published online: April 6, 2023
Processing time: 167 Days and 22.9 Hours
Abstract
BACKGROUND

Neonatal hyperinsulinism can result from perinatal stress, genetic disorders, or syndromes, which can lead to persistent or intractable hypoglycemia in newborns. Mutations in the ABCC8 gene result in abnormal functioning of potassium channel proteins in pancreatic β-cells, leading to an overproduction of insulin and congenital hyperinsulinemia.

CASE SUMMARY

We report a case of a high-birth-weight infant with postnatal hypoglycemia and hyperinsulinemia, whose mother had pregestational diabetes mellitus with poor glycemic control and whose sister had a similar history at birth. Whole-exome sequencing revealed a new mutation in the ABCC8 gene in exon 8 (c.1257T>G), which also occurred in his sister and mother; thus, the patient was diagnosed with neonatal hyperinsulinism with an ABCC8 mutation. With oral diazoxide treatment, the child’s blood glucose returned to normal, and the pediatrician gradually discontinued treatment because of the child’s good growth and development.

CONCLUSION

We report a new mutation locus in the ABCC8 gene. This mutation locus warrants attention for genetic disorders and long-term prognoses of hypoglycemic children.

Keywords: Newborn, Hypoglycemia, Congenital hyperinsulinism, ABCC8, Hyperglycemia in pregnancy, Case report

Core Tip: Neonatal hyperinsulinemia can have multiple causes. Persistent hypoglycemia caused by a genetic mutation is difficult to correct by conventional glucose and hydrocortisone infusion treatments, which may lead to adverse outcomes. In this case, the newborn had a family history of hypoglycemia and hyperinsulinism, was exposed to perinatal stress, and exhibited a mutation locus in the ABCC8 gene in exon 8 (c.1257T>G), which has not been previously reported. With diazoxide treatment, the child recovered well, and family genetic examinations showed a good prognosis.